リ・フラウメニ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000546.5(TP53):c.-202_*1207del	TP53	Pathogenic	17	7571720	7590868	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.743G>C (p.Arg248Pro)	TP53	Pathogenic/Likely pathogenic	17	7577538	7577538	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583676,UniProtKB:P04637#VAR_045246
single nucleotide variant	NM_000546.6(TP53):c.673-1G>T	TP53	Pathogenic	17	7577609	7577609	C	A	criteria provided, single submitter	ClinGen:CA10583677
Deletion	NM_000546.6(TP53):c.662del (p.Glu221fs)	TP53	Pathogenic	17	7578187	7578187	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583678
single nucleotide variant	NM_000546.6(TP53):c.375G>T (p.Thr125=)	TP53	Pathogenic	17	7579312	7579312	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575452
single nucleotide variant	NM_000546.6(TP53):c.981T>G (p.Tyr327Ter)	TP53	Likely pathogenic	17	7576865	7576865	A	C	criteria provided, single submitter	ClinGen:CA10584585
single nucleotide variant	NM_000546.6(TP53):c.794T>C (p.Leu265Pro)	TP53	Pathogenic/Likely pathogenic	17	7577144	7577144	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584586,UniProtKB:P04637#VAR_045321
Deletion	NM_000546.6(TP53):c.785del (p.Gly262fs)	TP53	Pathogenic	17	7577153	7577153	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584587
single nucleotide variant	NM_000546.6(TP53):c.538G>A (p.Glu180Lys)	TP53	Likely pathogenic	17	7578392	7578392	C	T	reviewed by expert panel	ClinGen:CA10584590,UniProtKB:P04637#VAR_044943
single nucleotide variant	NM_000546.6(TP53):c.473G>C (p.Arg158Pro)	TP53	Likely pathogenic	17	7578457	7578457	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584592,UniProtKB:P04637#VAR_044848